Results 101 to 110 of about 63,582 (298)

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Regulating Cells Fate and Function to Facilitate Bone Regeneration via Designing Programmable Bio‐Interactive Materials

Advanced Science, EarlyView.
This article aims to elucidate the biological mechanisms of bone repair and the evolution of material design, highlighting key cellular and molecular processes. It further proposes strategies and prospects for programmable bio‐interactive materials, which enable precisely guided bone tissue regeneration by dynamically regulating cell behavior and the ...
Qingrui Fan, Fuming Cao, Junqiang Mao, Pengbin Yin, Licheng Zhang, Jianjun Wang, Peifu Tang   +6 more
wiley   +1 more source

High‐Dose L‐Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature

JIMD Reports
Seryl‐tRNA synthetase 1 (SARS1) deficiency is a rare autosomal recessive disorder presenting with neurodevelopmental delay, deafness, cardiomyopathy, and fatal metabolic decompensation triggered by febrile episodes.
Victor Andrès Valle, Arnaud Wiedemnan, Eva Feigerlova, David Coelho, Elise Jeannesson, Irina Rotaru, Marc Merten, Alexandre Raharimanana, François Feillet, Jean‐Marie Ravel   +9 more
doaj   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

Cardiac manifestations of inborn errors of metabolism.

, 2007
Item does not contain fulltextAIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism.
Daphnis, E., Varlamis, G., Ganotakis, E., Michailidou, H., Evangeliou, A., Papadopoulou-Legbelou, K., Hitoglou-Makedou, A., Nicolaidou, P., Vavouranakis, I., Wevers, R.A.   +9 more
core  

BOULE is Essential for the Dynamic Disassembly of Heat Shock Granules in Male Germ Cells

Advanced Science, EarlyView.
BOULE orchestrates stress granule disassembly in germ cells via a two‐pronged mechanism: it promotes G3BP1 ubiquitination by upregulating TRIM27, generating a signal for VCP/FAF2 recruitment, and it maintains G3BP1 and FAF2 protein levels. BOULE deficiency disrupts disassembly complex formation, leading to impaired heat shock granule clearance ...
Xin Li, Nana Zhang, Zexin Bian, Baobao Geng, Liyun Cao, Peipei Liu, Zengming Li, Yan Zhao, Jun Tan   +8 more
wiley   +1 more source

TAB2 Causes Neuronal Damage by Aggravating Microglia‐Mediated Neuroinflammation in Parkinson's Disease

Advanced Science, EarlyView.
In microglia, STAT3 upregulates TAB2, which promotes NF‐κB activation through its NZF domain‐mediated recognition of K63‐linked ubiquitin chains, leading to inflammatory cytokine release and subsequent neuronal injury. Lumacaftor suppresses TAB2 expression and directly binds the TAB2‐NZF domain to interrupt K63 ubiquitin recognition, thereby blocking ...
Yanhao Zhao, Zimeng Huang, Jianing Gao, Aolan Li, Huizhi Wang, Yingchuan Chen, Guanyu Zhu, Xin Zhang, Yin Jiang, Moxuan Zhang, Fangang Meng, Jianguo Zhang, Tingting Du   +12 more
wiley   +1 more source

The BTB/POZ‐MATH Protein ZmBPM1 Interacts With Autophagy‐related Protein ZmATG6 and Modulates the NLR Protein Rp1‐D21‐Mediated Defense Response in Maize

Advanced Science, EarlyView.
The maize BTB/POZ‐MATH (BPM) protein ZmBPM1 interacts with autophagy‐related protein ZmATG6 to relocate the NLR protein Rp1‐D21 from the nucleo‐cytoplasmic compartment into autophagosome‐like puncta, leading to autophagy‐mediated turnover and suppressing the hypersensitive response.
Chang‐Xiao Tang, Tong‐Tong Liu, Qi‐Dong Ge, Xiao‐Ying Liu, Wanxiao Wang, Yang Sun, Yanfei Liu, Faqiang Li, Guan‐Feng Wang   +8 more
wiley   +1 more source

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

, 2016
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO, ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, VILLANI, GUGLIELMO ROSARIO DOMENI, MELIS, DANIELA, Moccia, A., STRISCIUGLIO, PIETRO, Albano, L., Gallo, G., PARENTI, GIANCARLO   +9 more
core  

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, Hatice Serap Sivri   +3 more
core   +1 more source